【摘要】：目的:本研究旨在對急性髓系白血病中MLL基因高表達(dá)患者的臨床表現(xiàn)和細(xì)胞分子遺傳學(xué)特征進(jìn)行探索與分析。方法:回顧性分析2010年1月至2016年8月來我院就診的急性髓系白血病患者,發(fā)現(xiàn)2例患者M(jìn)LL高表達(dá)。對這兩例患者的臨床和細(xì)胞分子遺傳學(xué)特征進(jìn)行收集和深入分析。結(jié)果:2例患者都是中年,分別診斷為FAB分型的M5b和M2a。該兩例患者均具有復(fù)雜核型,并且都含有11號染色體異常,其中1例患者被RT-PCR確證為MLL-PTD(外顯子2-9),另外1例為非MLL-PTD患者,經(jīng)Cytoscan HD進(jìn)一步分析發(fā)現(xiàn):11q擴(kuò)增和缺失同時存在,3p、3q、4q、5q、7q、8q、10p、10q、12p和18q都有區(qū)域缺失,4p有擴(kuò)增。結(jié)論:染色體異常-5/5q-,-7/7q-和高度復(fù)雜核型同時存在時,會加速疾病不良預(yù)后。因此,尚需要進(jìn)一步深入探討遺傳學(xué)異常是如何影響疾病進(jìn)程。
[Abstract]:Objective: to explore and analyze the clinical manifestations and cytogenetic characteristics of patients with high expression of MLL gene in acute myeloid leukemia. Methods: the high expression of MLL was found in 2 patients with acute myeloid leukemia from January 2010 to August 2016. The clinical and cytogenetic characteristics of these two patients were collected and analyzed. Results: two cases of middle age were diagnosed as M 5b and M 2 a by FAB classification, respectively. Both patients had complex karyotypes and both had chromosome 11 abnormalities. One patient was identified as MLL-PTD (exon 2-9) by RT-PCR and the other was a non-MLL-PTD patient. Further analysis by Cytoscan HD showed that both 11q amplification and deletion existed simultaneously, and 4p was amplified. Conclusion: chromosomal abnormalities-5 / 5q-7 / 7q- and highly complex karyotypes can accelerate the poor prognosis of the disease. Therefore, it is necessary to further explore how genetic abnormalities affect disease progression.
【作者單位】： 中國醫(yī)學(xué)科學(xué)院北京協(xié)和醫(yī)學(xué)院血液學(xué)研究所血液病醫(yī)院;
【基金】：國家自然科學(xué)基金項目(81500134)
【分類號】：R733.71

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